How Does Hypodontia Compare in Nonsyndromic Pierre Robin Sequence Versus Isolated Cleft Palate and Isolated Cleft Lip?

OBJECTIVE: To assess the prevalence and patterns of hypodontia in nonsyndromic Pierre Robin sequence (PRS) and compare it with hypodontia in nonsyndromic isolated cleft palates and isolated cleft lips. DESIGN: Retrospective cohort study. SETTING: Alder Hey Children's Hospital, United Kingdom. PATIENTS: Patients with nonsyndromic PRS (group 1), isolated cleft palate (group 2), and isolated cleft lip (group 3). MAIN OUTCOME MEASURES: Hypodontia in the permanent dentition assessed from orthopantomographs. RESULTS: A total of 154 patients were included. Group 1 had the highest incidence of hypodontia with 47% having at least one tooth congenitally absent. Groups 2 and 3 had reduced rates of hypodontia with 27% and 19% of the groups missing teeth, respectively; 93% of cases of hypodontia in group 1 involved the absence of at least one second premolar. Of these patients, there was found to be bilateral agenesis of second premolars in 50% of cases. CONCLUSIONS: Patients with PRS and cleft palates are more likely to have hypodontia than those with isolated cleft palates or unilateral cleft lips. Patients with PRS have more severe hypodontia than those with isolated cleft palates or unilateral cleft lips. Bilateral agenesis of lower second premolars is a commonly seen pattern among patients with PRS. In this large UK study, a similar prevalence and pattern of hypodontia to other nonsyndromic PRS populations worldwide has been demonstrated.

Mandibular metastases in neuroblastoma: Outcomes and dental sequelae.

BACKGROUND: Although metastatic involvement of bony sites including cranial bones is common in neuroblastoma (NB), mandibular metastases (MM) are uncommon, and specific outcomes have not been reported upon in the modern therapeutic era. METHODS: In this retrospective study, medical records on patients with MM from NB were reviewed. Statistical analysis was performed using the Kaplan-Meier method. RESULTS: Of 29 patients, nine (31%) had MM at diagnosis, whereas in 20 (69%) MM were first detected at NB relapse at a median time of 26 (6-89) months from diagnosis. Median maximal diameter of lesions was 3 (range 0.8-4.9) cm. MM were unilateral in 83% of patients, with ascending ramus (55%) and mandibular body (38%) being the two most common sites. All patients received systemic chemotherapy, and 26 (93%) patients received radiotherapy to MM. At a median follow-up of 37.3 (24.2-219.5) months, eight of nine patients with MM at diagnosis did not experience mandibular progressive disease. Eighteen of 20 patients with MM at relapse received therapeutic radiotherapy; objective responses were noted in 78%. Seventy-two percent (5/18) had not experienced relapse within the radiation field at a median of 12 (2-276) months postradiotherapy. Dental findings at follow-up after completion of NB therapy included hypodontia, hypocalcification of enamel, and trismus. Median 3-year overall survival in patients with relapsed MM was 51 ± 12% months from relapse. CONCLUSION: MM when detected at diagnosis is associated with a prognosis similar to that for other skeletal metastases of NB. Radiotherapy is effective for control of MM detected both at diagnosis and relapse. Significant dental abnormalities posttherapy warrant regular dental evaluations and appropriate intervention.

A novel mutation of MSX1 inherited from maternal mosaicism causes a severely affected child with nonsyndromic oligodontia.

Mutations of MSX1 have been associated with nonsyndromic hypodontia. To seek the causal gene mutation sites in a family with nonsyndromic oligodontia, whole-exome sequencing (WES) was performed to seek the causative locus of the family. The candidate mutation was further identified by Sanger sequencing afterward. Two mutations of MSX1 were found both in the proband and her mother. One novel heterozygous missense mutation (c.C667G, p.R223G) of MSX1 inherited from the asymptomatic mother with mosaic mutation was located in the highly conserved fragment of exon 2. The other was a synonymous mutation (c.C348T, p.G116G) in exon 1, which had been reported. The novel maternal heterozygous missense mutation (c.C667G, p.R223G) was likely to be the major reason for nonsyndromic oligodontia in the family. This is the first mosaic variant that has been recorded of the MSX1 gene. Our study expands the phenotype-genotype correlation associated with MSX1 variants. Our study also suggests that the determination of the mosaicism is essential for precise genetic counseling if a disease appears to arise de novo.

Scandcleft randomized trials of primary surgery for unilateral cleft lip and palate: dental anomalies in 8-year olds.

BACKGROUND: Children born with unilateral cleft lip and palate (UCLP) are reported to display several dental anomalies including agenesis, supernumeraries, as well as variations in dental size, shape, and path of eruption. The extensive sample of individuals with UCLP included in the Scandcleft randomized control trials offers the opportunity to study more rare conditions, which is seldom possible with limited samples. OBJECTIVES: The aim was to study dental anomalies at 8 years of age in children born with UCLP included in the Scandcleft randomized control trials. METHODS: Panoramic and intraoral radiographs from 425 individuals (279 males and 146 females) with a mean age of 8.1 years were assessed by four orthodontists regarding dental anomalies. RESULTS: Agenesis was found in 52.5 per cent and supernumerary teeth in 16.9 per cent of the participants. The cleft lateral was missing in 43.8 per cent and was found peg shaped in 44.7 per cent. The distribution of ectopic eruption was 14.6 per cent, mainly affecting maxillary first molars, while transposition was found in 3.4 per cent of the individuals. In addition, infraocclusion of one or several primary molars was registered in 7.2 per cent of the participants. CONCLUSION: We conclude that 8-year-old children born with UCLP display multiple dental anomalies. The Scandcleft sample allowed rarely studied conditions such as infraocclusion of primary molars and transposition to be studied in children born with UCLP. TRIAL REGISTRATION: ISRCTN29932826.

Secondary Dentition Characteristics in Children With Nonsyndromic Unilateral Cleft Lip and Palate: A Retrospective Study.

OBJECTIVE: Children with cleft lip and palate are reported to be commonly associated with higher prevalence of dental anomalies such as hypodontia, supernumeraries, and abnormalities in tooth size, shape, and position. This study investigated the prevalence of dental anomalies in a longitudinal cohort of children with unilateral cleft lip and palate (UCLP). DESIGN: The study was a retrospective analysis of radiographs, study models, and treatment notes. PATIENTS: Sixty patients with repaired UCLP aged 13 years old with complete dental records dating from 5 years of age were included. METHODS: Study casts, dental panoramic, anterior maxillary occlusal, and periapical radiographs of the patients were examined for cleft-sidedness, congenitally missing permanent teeth, supernumerary teeth, microdontic, and macrodontic teeth in the anterior maxillary region, presence of malformed permanent cleft-sided lateral incisor and its morphology (peg-shaped, conical shaped, canine-formed), positions of the permanent lateral incisors relative to the cleft side and presence of rotated cleft-sided central incisors. RESULTS: Of the 60 patients studied, 63.3% had hypodontia, 21.7% had supernumerary teeth, 69.6% had microdontia, and 12.5% had macrodontia. All of the cleft-sided permanent lateral incisors had associated anomalies, with a large proportion (43.1%) missing; and when present in 31 subjects, the majority (90.3%) was positioned distal to the cleft. Most of the cleft-sided permanent central incisors were rotated if present, and prevalent at 86.7%. CONCLUSION: A high prevalence of dental anomalies was observed in this sample of children with UCLP.

Interceptive treatment in ectodermal dysplasia using an innovative orthodontic/prosthetic modular appliance. A case report with 10- year follow-up.

AIM: The treatment of a complex case of hypohidrotic ectodermal dysplasia (HED) with severe oligodontia. CASE REPORT: A 6 years old boy with HED, was treated with an orthodontic/prosthetic modular appliance. The device is custom made and consists of two parts, upper and lower, which were partially removable and partially fixed. The patient was prepared to receive dental implants for definitive oral rehabilitation. The treatment begun with heath-cured acrylic resin removable appliance with expansion screw in the maxilla and in the mandible. Afterwards, an innovative orthodontic/prosthetic modular appliance was made in the maxilla and in the mandible, fixed with bands on the first permanent molars, with expansion screw and telescopic screw that follow and support the resin prosthetic teeth during the orthopaedic expansion. The resin prosthetic teeth are removable from the metallic fixed structure of this appliance.The patient was followed for 10 years from the beginning of treatment. CONCLUSION: The modular appliance here described and our therapeutic approach showed to be efficient and durable in the achievement of many goals in the treatment of a complex case of HED. The objectives were not only just orthodontic, but also prosthetic and psychological.

Oral Rehabilitation of a Patient With Ectodermal Dysplasia Treated With Fresh-Frozen Bone Allografts and Computer-Guided Implant Placement: A Clinical Case Report.

Ectodermal dysplasia (ED) is an inherited disorder characterized by abnormality of ectodermally derived structures. A recurrent oral finding is oligodontia, which in turn leads to a severely hypotrophic alveolar process with typical knife-edge morphology and adverse ridge contours. This unfavorable anatomy can seriously hamper proper implant placement. Fresh-frozen bone (FFB) allografts recently have been proposed to augment the residual bone volume for implant placement purposes; however, scientific evidence concerning the use of FFB to treat ED patients is absent. Similarly, data reporting computer-aided template-guided implant placement in medically compromised patients are limited. Thus the purpose of this report is to illustrate the oral rehabilitation of a female patient affected by ED and treated with appositional FFB block grafts and consecutive computer-guided flapless implant placement in a 2-stage procedure. Fixed implant-supported dental prostheses were finally delivered to the patient, which improved her self-esteem and quality of life. During the follow-up recall 1 year after the prosthetic loading, the clinical examination showed healthy peri-implant soft tissues with no signs of bleeding on probing or pathologic probing depths. The panoramic radiograph confirmed the clinical stability of the result. Peri-implant marginal bone levels were radiographically stable with neither pathologic bone loss at the mesial and distal aspects of each implant nor peri-implant radiolucency. Within the limitations of this report, the use of FFB allografts in association with computer-aided flapless implant surgery might be considered a useful technique in patients affected by ED.

Craniofacial and Dental Features in Six Children With Cherubism.

Cherubism is an autosomal-dominant benign bone disorder, characterized by fibro-osseous lesions in the mandible and maxilla commonly caused by mutations in the SH3-binding protein 2-gene. The purpose of the authors' study was to analyze craniofacial and dental features of children diagnosed with cherubism, describe their treatment, and assess their dental age compared with norms for Finnish children. Six children were diagnosed, followed up and treated due to dental and skeletal disorders caused by cherubsim. The patients were followed up for an average of 91.5 months with emphasis on the skeletal changes and development of dentition. The treatment consisted of minor orthodontic treatment, dental extractions, and exposures. One patient underwent cosmetic mandibular surgery. All patients had lesions in the lower jaw and 5 of 6 patients had lesions in the maxilla as well. The patients were characterized by varying swelling of the jaws, premature loss of deciduous teeth in the affected area and widely spaced, displaced, un-erupted, or absent permanent teeth. The dental age was delayed at younger age but near to normal or even a little ahead at older age. Even though cherubism affects the jaws, jaw positions, and malocclusion, no common dentofacial proportions associated with the disease could be confirmed by cephalometric analysis. The surgical interventions did not provoke adverse reactions or local growth of the lesions.

Prosthodontic Rehabilitation of an Ectodermal Dysplasia Patient with Implant Telescopic Crown Attachments.

Telescopic crown attachments have been successfully used in completely and partially edentulous patients. This type of attachment provides retention, support, and stability with optimal hygiene for the removable dental prosthesis (RDP). With the emergence of CAD/CAM technology, telescopic crown attachments can be virtually designed and milled precisely to ensure a passive fit of the attachment parts and maximal functionality of the RDP. This article reviews both the clinical outcome and prosthodontic rehabilitation of telescopic crown attachments of an edentulous ectodermal dysplasia patient with solitary rigid conical telescopic crown attachments.

Radiographic Study of the Prevalence and Distribution of Hypodontia Associated with Unilateral and Bilateral Clef Lip and Palate in a Hungarian Population.

BACKGROUND Cleft defects are one of the most frequent birth-deformities of the orofacial region and they are commonly associated with anomalies of the tooth structure, size, shape, formation, eruption, and tooth number. The aim of our study was to evaluate the prevalence, distribution, and potential association of combined hypodontia in cleft-affected patients with regard to all types of teeth in both jaws in the permanent dentition. MATERIAL AND METHODS This retrospective radiographic analysis included patients with various types of clefts treated orthodontically in the Department of Orofacial Orthopedics and Orthodontics at Heim Pàl Children's Hospital, Budapest. There were 150 patients (84 males, 66 females) with non-syndromic unilateral (UCLP; n=120 patients) or bilateral (BCLP; n=30 patients) cleft formation (lip, alveolus and palate) who met the inclusion criteria. Statistical analysis was performed using the chi-square test and Fisher's exact test (significance level p<0.05). RESULTS Hypodontia was significantly more frequent in patients with cleft-sided lateral incisor (104 patients, 69%), with a total of 235 missing teeth, followed by the second premolars of the upper and lower jaw. A significant correlation of congenital missing teeth was observed in left-sided clefts between the upper and lower second premolar in the cleft area CONCLUSIONS Hypodontia inside and outside the cleft area was frequently observed. This should affect the therapy plans, especially if the cleft-sided premolar is also absent. Further comprehensive research including numerous random samples is necessary for better estimating other possible associations.

Odontogenic keratocysts in the Basal Cell Nevus (Gorlin-Goltz) Syndrome associated with paresthesia of the lower jaw: Case report, retrospective analysis of a representative Czech cohort and recommendations for the early diagnosis.

OBJECTIVES: Identification of early presenting signs of the Basal Cell Nevus (BCNS; synonyme Gorlin-Goltz) syndrome, which is associated with a principal triad of multiple basal cell nevi, jaw odontogenic keratocysts, and skeletal anomalies, in stomatological and neurological practices. Proposal of multidisciplinary diagnostic algorithm comprising other medical specialists, including pathology, imaging, laboratory and molecular analyses based on the study outcomes. DESIGN: Case report of a male patient reporting paresthesia of their lower jaw, with right facial asymmetry (maxilla and mandible) and radiological detection of large osteolytic lesions in both jaws, including a retrospective analysis of a representative Czech cohort with BCNS from within the last decade. SETTING: Clinical, imaging and laboratory analyses were carried out at a national tertiary centre. RESULTS: A multidisciplinary clinical approach followed by surgical management lead to the identification of odontogenic cysts, which were substantiated by histological examination. DNA sequencing of the PTCH1 gene detected a c.2929dupT resulting in p. Tyr977Leufs*16 pathogenic variant. This finding confirmed the clinical and laboraoty diagnosis of BCNS. Parental DNA analysis showed that this causal genetic defect arose de novo. Surgical management and orthodontic therapy were successful. CONCLUSIONS: Analysis of the reported case and retrospective data analysis provided evidence that paresthesia of the lower jaw should be considered as one of the early presenting signs of this rare disorder in stomatological and neurological practice. Obtained results allowed us to formulate recommendations for diagnostic practice in stomatology and neurology.

Novel EDA mutation in X-linked hypohidrotic ectodermal dysplasia and genotype-phenotype correlation.

OBJECTIVES: X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by abnormalities of hair, teeth, and sweat glands, while non-syndromic hypodontia (NSH) affects only teeth. Mutations in Ectodysplasin A (EDA) underlie both XLHED and NSH. This study investigated the genetic causes of six hypohidrotic ectodermal dysplasia (HED) patients and genotype-phenotype correlation. METHODS: The EDA gene of six patients with HED was sequenced. Bioinformatics analysis and structural modeling for the mutations were performed. The records of 134 patients with XLHED and EDA-related NSH regarding numbers of missing permanent teeth from this study and 20 articles were reviewed. Nonparametric tests were used to analyze genotype-phenotype correlations. RESULTS: In four of the six patients, we identified a novel mutation c.852T>G (p.Phe284Leu) and three reported mutations: c.467G>A (p.Arg156His), c.776C>A (p.Ala259Glu), and c.871G>A (p.Gly291Arg). They were predicted to be pathogenic by bioinformatics analysis and structural modeling. Genotype-phenotype correlation analysis revealed that truncating mutations were associated with more missing teeth. Missense mutations and the mutations affecting the TNF homology domain were correlated with fewer missing teeth. CONCLUSIONS: This study extended the mutation spectrum of XLHED and revealed the relationship between genotype and the number of missing permanent teeth.

Prevalence and patterns of tooth agenesis in Angle Class II Division 2 malocclusion in Japan.

INTRODUCTION: The purpose of this study was to evaluate the prevalence and patterns of tooth agenesis in subjects with Angle Class II Division 2 malocclusion compared with general orthodontic patients in Japan. METHODS: Panoramic radiographs, dental casts, and cephalograms of 76 patients with Class II Division 2 malocclusions (52 female, 24 male) and 270 orthodontic patients as the control group (168 female, 102 male) who were 14 years of age or older were selected. The prevalences of tooth agenesis in this cohort and in each tooth type were calculated and compared between the groups with the chi-square test. Odds ratios and corresponding 95% confidence intervals were also calculated. RESULTS: The prevalence of tooth agenesis excluding the third molars was significantly higher in the Class II Division 2 group (22.4%) than in the control group (11.9%) (P <0.05); the odds ratio was 2.14 (95% CI, 1.12-4.12). A higher prevalence of tooth agenesis excluding the third molars was observed in the Class II Division 2 group for the mandibular second premolar (P <0.05) and the maxillary lateral incisor (P <0.01). The prevalence of third molar agenesis was also significantly higher in the Class II Division 2 group (42.1%) compared with the control group (26.7%) (P <0.05); the odds ratio was 2.00 (95% CI, 1.18-3.40). CONCLUSIONS: Compared with the general orthodontic patient population, permanent tooth agenesis was observed approximately 2 times more frequently, and a distinctive agenesis pattern was found in the Class II Division 2 group in Japan.

[Ectodermal Capdepont syndrome and oral prosthetic rehabilitation. About a clinical case]. / Syndrome ectodermique de Capdepont et réhabilitation orale prothétique. A propos d'un cas Clinique.

The authors describe the ectodermal Capdepont syndrome as an anomaly characterized by anhidrosis, hypotrichosis and anodontia diagnosed in a 22 year-old adult. In front of this anodontia, oral prosthetic rehabilitation remains the only solution.

[Prevalence of dentition defects among pre-school children of Tver region according to epidemiological study].

Epidemiological dental study of 724 pre-school children in Tver region revealed high prevalence of dentition defects due to premature removal of temporary molars. Dependence of pediatric population need for prosthetic dentistry from regional dental care system staff competence is shown. The date proved the need for standard correction of orthodontists number and broad application of pediatric prosthetics in daily practice.

Oral health and dental late adverse effects in children in remission from malignant disease. A pilot case-control study in Italian children.

AIM: To investigate with a reliable method the oral features in Italian patients in remission from cancer, highlighting the relationship with age at cancer therapy and to compare the data with healthy controls. MATERIALS AND METHODS: Twenty five childhood cancer survivors treated under the age of 10 years with chemotherapy w/wo Haemopoietic Stem Cell Transplantation and/or head-neck Radiotherapy, in remission from cancer for at least 3 years, were examined for dental caries and enamel defects. To assess dental age and dental abnormalities a panoramic radiograph was taken. Patients were grouped according to age at cancer therapy (<3 years: subgroup Y; 3.1-5 years: subgroup M; >5 years: subgroup O). A control group of 26 healthy children was included. RESULTS: There was not a statistically significant difference in caries prevalence between the two groups. A statistically significant difference between the two groups was found for enamel defects, dental abnormalities and dental age. The chi-squared test revealed a relationship between age at therapy and specific dental abnormalities. CONCLUSION: This study shows that cancer therapy may increase the risk of development of enamel defects and dental abnormalities, especially in children treated under the age of 3 years.

Late diagnosis of ectodermal dysplasia syndrome.

This case study reports the clinical, skin biopsy and molecular findings in a 56-year-old Filipino man with the autosomal recessive ectodermal dysplasia disorder, Schöpf-Schulz-Passarge syndrome, the precise nature of which was established only after reading of a similar case in this journal. In addition to the late diagnosis, successful clinical management of his acral hyperkeratosis and ulceration has been difficult, with oral retinoids exacerbating the skin fragility.

Dental and oral anomalies in incontinentia pigmenti: a systematic review.

OBJECTIVES: Incontinentia pigmenti (IP) is an X-linked genodermatosis caused by a mutation of the IKBKG gene. The objective of this study was to present a systematic review of the dental and oral types of anomalies, to determine the total number and sex distribution of the anomalies, and to analyze possible therapies. MATERIALS AND METHODS: We analyzed the literature data from 1,286 IP cases from the period 1993-2010. RESULTS: Dental and/or oral anomalies were diagnosed for 54.38% of the investigated IP patients. Most of the anomaly types were dental, and the most frequent of these were dental shape anomalies, hypodontia, and delayed dentition. The most frequent oral anomaly types were cleft palate and high arched palate. IKBKG exon 4-10 deletion was present in 86.36% of genetically confirmed IP patients. CONCLUSIONS: According to the frequency, dental and/or oral anomalies represent the most frequent and important IP minor criteria. The most frequent mutation was IKBKG exon 4-10 deletion. The majority of dental anomalies and some of the oral anomalies could be corrected. CLINICAL RELEVANCE: Because of the presence of cleft palate and high arched palate in IP patients, these two anomalies may be considered as diagnostic IP minor criteria as well.

Importance of root development in autotransplantations: a retrospective study of 137 teeth with a follow-up period varying from 1 week to 14 years.

The aim of the present study was to perform a retrospective study of autotransplanted teeth with a variable but individually maximized follow-up period in order to provide information on the long-term clinical outcome. The sample was obtained from patients who were treated at the University Hospitals KU-Leuven, Belgium, during the period 1996-2010. Of the total of 109 subjects (137 teeth), 98 patients were invited for recall, of whom 68 patients (87 teeth) responded positively. Eleven out of the 109 patients were excluded due to loss of the transplanted tooth. Although 41 patients had no re-examination visit, clinical and radiological data from all 109 subjects were included in the sample. The follow-up period varied from 1 week of 14.8 years, with a mean of 4.9 years. Transplanted teeth receiving orthodontic treatment had a lower risk of ankylosis and were less likely to fail. The risk of root resorption was lower for teeth with stages one-half to three-quarters of root length at the time of transplantation. Molars were more susceptible to ankylosis. Almost all teeth showed partial or full obliteration of the pulp. Absence of further root development was higher in donor teeth with root length stage less than one-half. Trans-alveolar transplantation was less successful. Autotransplantation can be a valid alternative method in young adolescents for replacing missing teeth because of agenesis or trauma. The optimal time to transplant is when the root has reached two-thirds to three-quarters of the final root length.

Speech prosthesis in child patient with ectodermal dysplasia. Case report.

Fabrication of several esthetic speech prostheses in a 4-year-old child patient with ectodermal dysplasia is reported. This report details, clinically and radiographically, effects in a child diagnosed with hypohidrotic ectodermal dysplasia, as well as speech device construction.